Full data view for gene MYO7A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000260.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

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VIP     

Data_av     

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Panel size     

Owner     
+/+ 6 c.581_582del r.(?) p.(Pro194Hisfs*14) Motor domain (1-729) Paternal (inferred) - pathogenic g.76867816_76867817del g.77156770_77156771del - - MYO7A_000516 Homozygous; causative PubMed: Rong 2014 - - Germline - 0/200 controls - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 6 c.581_582del r.(?) p.(Pro194Hisfs*14) Motor domain (1-729) Maternal (inferred) - pathogenic g.76867816_76867817del g.77156770_77156771del - - MYO7A_000516 Homozygous; causative PubMed: Rong 2014 - - Germline - 0/200 controls - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
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